Blue diaper syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
HYPERCALCEMIA, FAMILIAL, WITH NEPHROCALCINOSIS AND INDICANURIA Familial hypercalcemia - nephrocalcinosis - indicanuria Drummond syndrome |
| Number of Symptoms | 28 |
| OrphanetNr: | 94086 |
| OMIM Id: |
211000
|
| ICD-10: |
E72.0 |
| UMLs: |
C0268478 |
| MeSH: |
C536239 |
| MedDRA: |
|
| Snomed: |
59531002 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
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| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Disorder of amino acid absorption and transport
-Rare genetic disease |
Comment:
| Blue diaper syndrome may be associated with a defect in the transport of tryptophan caused by mutations in the L-type amino acid transporters TAT1 or LAT2 (SLC7A8) (PMID:15918515). The defect in tryptophan absorption leads to a bluish discoloration of the urine when it comes into contact with the air. |
Symptom Information:
|
|
(HPO:0000121) | Nephrocalcinosis | Very frequent [IBIS] | 14246093 | IBIS | 57 / 7739 | |
|
|
(HPO:0012086) | Abnormal urinary color | 14246093 | IBIS | 19 / 7739 | ||
|
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(HPO:0012227) | Urethral stricture | 14246093 | IBIS | 5 / 7739 | ||
|
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(HPO:0000083) | Renal insufficiency | 1818237 | IBIS | 232 / 7739 | ||
|
|
(HPO:0003361) | Tryptophanuria | Very frequent [IBIS] | 14246093 | IBIS | 3 / 7739 | |
|
|
(HPO:0012085) | Pyuria | 14246093 | IBIS | 2 / 7739 | ||
|
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(HPO:0000103) | Polyuria | 14246093 | IBIS | 60 / 7739 | ||
|
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(HPO:0000286) | Epicanthus | 1818237 | IBIS | 371 / 7739 | ||
|
|
(HPO:0001363) | Craniosynostosis | Frequent [IBIS] | 1818237 | IBIS | 132 / 7739 | |
|
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(HPO:0004428) | Elfin facies | 1818237 | IBIS | 5 / 7739 | ||
|
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(HPO:0000648) | Optic atrophy | 1818237 | IBIS | 238 / 7739 | ||
|
|
(HPO:0000496) | Abnormality of eye movement | 1818237 | IBIS | 79 / 7739 | ||
|
|
(HPO:0001085) | Papilledema | 1818237 | IBIS | 31 / 7739 | ||
|
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(HPO:0007766) | Optic disc hypoplasia | 1818237 | IBIS | 7 / 7739 | ||
|
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(HPO:0000486) | Strabismus | 1818237 | IBIS | 576 / 7739 | ||
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(HPO:0000482) | Microcornea | 1818237 | IBIS | 102 / 7739 | ||
|
|
(HPO:0000639) | Nystagmus | 1818237 | IBIS | 555 / 7739 | ||
|
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(HPO:0000737) | Irritability | 14246093 | IBIS | 93 / 7739 | ||
|
|
(HPO:0001249) | Intellectual disability | 1818237 | IBIS | 1089 / 7739 | ||
|
|
(HPO:0005789) | Generalized osteosclerosis | Frequent [IBIS] | 1818237 | IBIS | 10 / 7739 | |
|
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(HPO:0002013) | Vomiting | 1818237 | IBIS | 191 / 7739 | ||
|
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(HPO:0002039) | Anorexia | 1818237 | IBIS | 62 / 7739 | ||
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(HPO:0003510) | Severe short stature | Frequent [IBIS] | 1818237 | IBIS | 90 / 7739 | |
|
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(HPO:0004365) | Abnormality of tryptophan metabolism | Very frequent [IBIS] | 15918515 | IBIS | 4 / 7739 | |
|
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(HPO:0001945) | Fever | 14246093 | IBIS | 218 / 7739 | ||
|
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(HPO:0003072) | Hypercalcemia | Very frequent [IBIS] | 14246093 | IBIS | 36 / 7739 | |
|
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(OMIM) | Indicanuria | Very frequent [IBIS] | 14246093 | IBIS | 1 / 7739 | |
|
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(OMIM) | Intestinal tryptophan transport defective | Very frequent [IBIS] | 15918515 | IBIS | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|